RGD:11598876 Rat Genome Database

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Variant: RGD:11598876 -  Homo sapiens

RGD ID: 11598876
RS ID: rs547577402
ClinVar ID: CV321092
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACADSB  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 124,816,751
GRCh38 10 123,057,235
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_451t1:c.*3470T>C
LRG_451:g.53323T>C
NG_008003.1:g.53323T>C
NC_000010.11:g.123057235T>C
More... 		01/12/2018 3 prime utr variant uncertain significance infancy <1 / 1 000 000 2-methylbutyric aciduria; 2-methylbutyryl-CoA dehydrogenase deficiency; 2-methylbutyrylglycinuria; SBCAD deficiency; Short branched-chain acyl-CoA dehydrogenase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ACADSB
Accession:NM_001330174
Location:3UTRS;EXON

Gene Symbol:ACADSB
Accession:NM_001609
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000260801 CLINVAR
dbSNP (RS) rs547577402 CLINVAR
MedGen C1864912 CLINVAR
NCBI Gene ACADSB CLINVAR
OMIM 600301 CLINVAR
  610006 CLINVAR
SNOMED CT 444838008 CLINVAR